Linked Data
ClinVar Variation Id:
13471
ClinVar RCV Id:
RCV000014413
dbSNP Id:
rs121908592
ExAC:
12:5155040 C / T
gnomAD v2:
12-5155040-C-T
gnomAD v3:
12-5045874-C-T
gnomAD v4:
12-5045874-C-T
PubMed:
PMID:19343045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045874C>T , CM000674.2:g.5045874C>T | GRCh38 |
| NC_000012.11:g.5155040C>T , CM000674.1:g.5155040C>T | GRCh37 |
| NC_000012.10:g.5025301C>T | NCBI36 |
| NG_012198.1:g.6956C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.1727C>T MANE Select | ENSP00000252321.3:p.Ala576Val | |
| ENST00000252321.4:c.1727C>T | ENSP00000252321.3:p.Ala576Val | |
| NM_002234.3:c.1727C>T | NP_002225.2:p.Ala576Val | |
| NM_002234.4:c.1727C>T MANE Select | NP_002225.2:p.Ala576Val |